Baumhoer, D;
Kovac, M;
Sperveslage, J;
Ameline, B;
Strobl, A-C;
Krause, A;
Trautmann, M;
... Hartmann, W; + view all
(2019)
Activating mutations in the MAP-kinase pathway define non-ossifying fibroma of bone.
The Journal of Pathology
, 248
(1)
pp. 116-122.
10.1002/path.5216.
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Abstract
Non‐ossifying fibroma (NOF), which occasionally results in pathologic fracture, is considered the most common benign and self‐limiting lesion of the growing skeleton. By DNA sequencing we have identified hotspot KRAS, FGFR1 and NF1 mutations in 48 of 59 patients (81.4%) with NOF, at allele frequencies ranging from 0.04 to 0.61. Our findings define NOF as a genetically driven neoplasm caused in most cases by activated MAP‐kinase signalling. Interestingly, this driving force either diminishes over time or at least is not sufficient to prevent autonomous regression and resolution. Beyond its contribution to a better understanding of the molecular pathogenesis of NOF, this study adds another benign lesion to the spectrum of KRAS‐ and MAP‐kinase signalling‐driven tumours.
| Type: | Article |
|---|---|
| Title: | Activating mutations in the MAP-kinase pathway define non-ossifying fibroma of bone |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/path.5216 |
| Publisher version: | https://doi.org/10.1002/path.5216 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | FGFR1, KRAS, NF1, Non-ossifying fibroma, bone tumour, massively parallel sequencing |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Pathology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10068097 |
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